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Ocular albinism, type I(OA1)

MedGen UID:
90991
Concept ID:
C0342684
Disease or Syndrome
Synonyms: Nettleship-Falls type ocular albinism; OA1; Ocular albinism type 1; Ocular Albinism type 1; Ocular Albinism, X-Linked
Modes of inheritance:
X-linked inheritance
MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
SNOMED CT: OA1 - X-linked ocular albinism (78642008); X-linked ocular albinism (78642008); X-linked recessive ocular albinism (78642008); X-linked ocular albinism, Nettleship type (78642008); Nettleship-Falls type ocular albinism (78642008); Ocular albinism, type I (78642008)
 
Gene: GPR143
Cytogenetic location: Xp22.2
OMIM®: 300500
Orphanet: ORPHA54

Disease characteristics

Excerpted from the GeneReview: Ocular Albinism, X-Linked
X-linked ocular albinism (XLOA) is a disorder of melanosome biogenesis leading to minor skin manifestations and congenital and persistent visual impairment in affected males. XLOA is characterized by infantile nystagmus, reduced visual acuity, hypopigmentation of the iris pigment epithelium and the ocular fundus, and foveal hypoplasia. Significant refractive errors, reduced or absent binocular functions, photoaversion, and strabismus are common. XLOA is a non-progressive disorder and the visual acuity remains stable throughout life, often slowly improving into the mid-teens.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Richard Alan Lewis   view full author information

Additional descriptions

From OMIM
Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus' (summary by Xiao and Zhang, 2009).  http://www.omim.org/entry/300500
From GHR
Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision. Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain. Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor. The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss.  http://ghr.nlm.nih.gov/condition/ocular-albinism

Clinical features

Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A neoplasm of the skin.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Abnormality of the pupil
MedGen UID:
450993
Concept ID:
C0154936
Finding
Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding
Astigmatism
MedGen UID:
504459
Concept ID:
CN000451
Finding
Astigmatism describes a refractive error characterized by a difference in the horizontal and vertical curvature of the cornea.
Myopia
MedGen UID:
504487
Concept ID:
CN000511
Finding
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Photophobia
MedGen UID:
504524
Concept ID:
CN000575
Finding
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Abnormality of the macula
MedGen UID:
446392
Concept ID:
CN001036
Finding
An abnormality of the macula lutea is an oval-shaped highly pigmented yellow spot near the center of the retina.
Ocular albinism
MedGen UID:
504729
Concept ID:
CN001040
Finding
An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.
Nystagmus-induced head nodding
MedGen UID:
425039
Concept ID:
CN001247
Finding
Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.
Depigmented fundus
MedGen UID:
446848
Concept ID:
CN006733
Finding
Photophobia
MedGen UID:
504524
Concept ID:
CN000575
Finding
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Freckling
MedGen UID:
5272
Concept ID:
C0016689
Disease or Syndrome
Giant melanosomes in melanocytes
MedGen UID:
505837
Concept ID:
CN004951
Finding
The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.
Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A neoplasm of the skin.

Term Hierarchy

Recent clinical studies

Etiology

Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC
Gene 2014 Jan 1;533(1):398-402. Epub 2013 Oct 3 doi: 10.1016/j.gene.2013.09.053. [Epub ahead of print] PMID: 24096233
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Kumar A, Gottlob I, McLean RJ, Thomas S, Thomas MG, Proudlock FA
Invest Ophthalmol Vis Sci 2011 Apr 8;52(5):2306-13. doi: 10.1167/iovs.10-5685. PMID: 21220551
Zhang Y, McMahon R, Charles SJ, Green JS, Moore AT, Barton DE, Yates JR
J Med Genet 1993 Nov;30(11):923-5. PMID: 8301646Free PMC Article
O'Donnell FE Jr, Hambrick GW Jr, Green WR, Iliff WJ, Stone DL
Arch Ophthalmol 1976 Nov;94(11):1883-92. PMID: 985163

Diagnosis

Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC
Gene 2014 Jan 1;533(1):398-402. Epub 2013 Oct 3 doi: 10.1016/j.gene.2013.09.053. [Epub ahead of print] PMID: 24096233
Cai CY, Zhu H, Shi W, Su L, Shi O, Cai CQ, Ling C, Li WD
Genet Mol Res 2013 Nov 18;12(4):5673-9. doi: 10.4238/2013.November.18.16. PMID: 24301936
Dotta L, Parolini S, Prandini A, Tabellini G, Antolini M, Kingsmore SF, Badolato R
Orphanet J Rare Dis 2013 Oct 17;8:168. doi: 10.1186/1750-1172-8-168. [Epub ahead of print] PMID: 24134793Free PMC Article
Rodríguez-Agramonte F, Izquierdo NJ, Cadilla C
Bol Asoc Med P R 2013;105(2):62-4. PMID: 23882993Free PMC Article
Trebušak Podkrajšek K, Stirn Kranjc B, Hovnik T, Kovač J, Battelino T
Ophthalmic Genet 2012 Sep;33(3):167-70. Epub 2012 Apr 9 doi: 10.3109/13816810.2011.559651. [Epub ahead of print] PMID: 22486324

Therapy

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J Clin Invest 2011 Oct;121(10):3914-23. doi: 10.1172/JCI59372. PMID: 21968110Free PMC Article
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Prognosis

Rimoldi V, Straniero L, Asselta R, Mauri L, Manfredini E, Penco S, Gesu GP, Del Longo A, Piozzi E, Soldà G, Primignani P
Gene 2014 Mar 1;537(1):79-84. Epub 2013 Dec 18 doi: 10.1016/j.gene.2013.11.102. [Epub ahead of print] PMID: 24361966
Ghosh A, Sonavane U, Andhirka SK, Aradhyam GK, Joshi R
J Mol Model 2012 May;18(5):2117-33. Epub 2011 Sep 22 doi: 10.1007/s00894-011-1228-8. [Epub ahead of print] PMID: 21938455
Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA
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Clinical prediction guides

Rimoldi V, Straniero L, Asselta R, Mauri L, Manfredini E, Penco S, Gesu GP, Del Longo A, Piozzi E, Soldà G, Primignani P
Gene 2014 Mar 1;537(1):79-84. Epub 2013 Dec 18 doi: 10.1016/j.gene.2013.11.102. [Epub ahead of print] PMID: 24361966
Dijkstal JM, Cooley SS, Holleschau AM, King RA, Summers CG
J Pediatr Ophthalmol Strabismus 2012 Mar-Apr;49(2):81-6; quiz 87. Epub 2011 Jul 6 doi: 10.3928/01913913-20110628-02. [Epub ahead of print] PMID: 21732575
Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA
Am J Med Genet A 2009 Mar;149A(3):466-9. doi: 10.1002/ajmg.a.32654. PMID: 19208379
Incerti B, Cortese K, Pizzigoni A, Surace EM, Varani S, Coppola M, Jeffery G, Seeliger M, Jaissle G, Bennett DC, Marigo V, Schiaffino MV, Tacchetti C, Ballabio A
Hum Mol Genet 2000 Nov 22;9(19):2781-8. PMID: 11092754
Zhang Y, McMahon R, Charles SJ, Green JS, Moore AT, Barton DE, Yates JR
J Med Genet 1993 Nov;30(11):923-5. PMID: 8301646Free PMC Article

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